| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48980531:48980531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466C>T |
| AA Mutation |
p.Arg156Trp(p.R156W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48980565:48980565(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.506delG |
| AA Mutation |
p.Gly169AlafsTer30(p.G169Afs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48979502:48979502(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.139delC |
| AA Mutation |
p.Thr48GlnfsTer17(p.T48Qfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |